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Hvidovre Hospital - en del af Københavns Universitetshospital
Udgivet

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

DOI

  1. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

    Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

  2. Infantile spasmer

    Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

  3. Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

    Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

  • Stephanie Oates
  • Michael Absoud
  • Sushma Goyal
  • Sophie Bayley
  • Jennifer Baulcomb
  • Annemarie Sims
  • Amy Riddett
  • Katrina Allis
  • Charlotte Brasch-Andersen
  • Meena Balasubramanian
  • Renkui Bai
  • Bert Callewaert
  • Ulrike Hüffmeier
  • Diana Le Duc
  • Maximilian Radtke
  • Christian Korff
  • Joanna Kennedy
  • Karen Low
  • Rikke S Møller
  • Jens Erik Klint Nielsen
  • Bernt Popp
  • Lina Quteineh
  • Gitte Rønde
  • Bitten Schönewolf-Greulich
  • Amelle Shillington
  • Matthew Rg Taylor
  • Emily Todd
  • Pernille M Torring
  • Zeynep Tümer
  • Georgia Vasileiou
  • T Michael Yates
  • Christiane Zweier
  • Richard Rosch
  • M Albert Basson
  • Deb K Pal
Vis graf over relationer

ZMYND11 is the critical gene in chromosome 10p15.3 microdeletion syndrome, a syndromic cause of intellectual disability. The phenotype of ZMYND11 variants has recently been extended to autism and seizures. We expand on the epilepsy phenotype of 20 individuals with pathogenic variants in ZMYND11. We obtained clinical descriptions of 16 new and nine published individuals, plus detailed case history of two children. New individuals were identified through GeneMatcher, ClinVar and the European Network for Therapies in Rare Epilepsy (NETRE). Genetic evaluation was performed using gene panels or exome sequencing; variants were classified using American College of Medical Genetics (ACMG) criteria. Individuals with ZMYND11 associated epilepsy fell into three groups: (i) atypical benign partial epilepsy or idiopathic focal epilepsy (n = 8); (ii) generalised epilepsies/infantile epileptic encephalopathy (n = 4); (iii) unclassified (n = 8). Seizure prognosis ranged from spontaneous remission to drug resistant. Neurodevelopmental deficits were invariable. Dysmorphic features were variable. Variants were distributed across the gene and mostly de novo with no precise genotype-phenotype correlation. ZMYND11 is one of a small group of chromatin reader genes associated in the pathogenesis of epilepsy, and specifically ABPE. More detailed epilepsy descriptions of larger cohorts and functional studies might reveal genotype-phenotype correlation. The epileptogenic mechanism may be linked to interaction with histone H3.3.

OriginalsprogEngelsk
TidsskriftClinical Genetics
Vol/bind100
Udgave nummer4
Sider (fra-til)412-429
Antal sider18
ISSN0009-9163
DOI
StatusUdgivet - okt. 2021

Bibliografisk note

© 2021 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.

ID: 67846977